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| Creator | Title | Description | Subject | Date | ||
|---|---|---|---|---|---|---|
| 1 |
 | Baehr, Wolfgang; Katz, Bradley J.; Creel, Donnell J.; Zhang, Kang | Autosomal dominant cone dystrophy caused by a novel mutation in the GCAP1 gene (GUCA1A) | PURPOSE: To describe the clinical features and genetic analysis of a family with an autosomal dominant cone dystrophy (adCD). METHODS: Selected members of a family with an autosomal dominant cone dystrophy underwent ophthalmic evaluation. Blood samples were obtained, genomic DNA was isolated, and ge... | Mutation, Missense; DNA Mutational Analysis; Electroretinography | 2005 |
| 2 |
 | Capecchi, Mario R. | Gene targeting. How efficient can you get? | With targeting in Leishmania and Trypanosoma, there are now greater incentives to develop the technology in organisms of intermediate complexity such as Caenorhabditis elegans and Drosophila. The ratio of homologous to nonhomologus recombination in these organisms might prove to be greater than in m... | Animals; DNA Mutational Analysis; Recombination, Genetic | 1990-11-08 |
| 3 |
 | Bernstein, Paul S.; Leppert, Mark F. | Genotype-phenotype analysis of ABCR variants in macular degeneration probands and siblings | PURPOSE: Single-copy variants of the autosomal recessive Stargardt disease (STGD1) gene ABCR (ABCA4) have been shown to confer enhanced susceptibility to age-related macular degeneration (AMD). To investigate the role of ABCR alleles in AMD further, genotype-phenotype analysis was performed on sibli... | DNA Mutational Analysis; Nuclear Family; Phenotype | 2002 |
| 4 |
 | Baehr, Wolfgang | Novel GCAP1 missense mutation (L151F) in a large family with autosomal dominant cone-rod dystrophy (adCORD) | PURPOSE: To elucidate the phenotypic and biochemical characteristics of a novel mutation associated with autosomal dominant cone-rod dystrophy (adCORD). METHODS: Twenty-three family members of a CORD pedigree underwent clinical examinations, including visual acuity tests, standardized full-field ERG... | Polymorphism, Single-Stranded Conformational; Guanylate Cyclase-Activating Proteins; DNA Mutational Analysis | 2005 |
| 5 |
 | Baehr, Wolfgang | Novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration | PURPOSE: To identify pathogenic mutations in the guanylate cyclase-activating protein 1 (GCAP1) and GCAP2 genes and to characterize the biochemical effect of mutation on guanylate cyclase (GC) stimulation. METHODS: The GCAP1 and GCAP2 genes were screened by direct sequencing for mutations in 216 pat... | DNA Mutational Analysis; Mutation, Missense; Electroretinography | 2004 |
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